PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000288840	[[66994565, 66996413], [67004005, 67004062], [67008758, 67008836], [67073334, 67074338]]	[[66995596, 66996413], [67004005, 67004062], [67008758, 67008836], [67073334, 67073873]]
ENST00000457357	[[66994673, 66996413], [67004005, 67004062], [67008758, 67008836], [67009346, 67009411]]	[[66995596, 66996413], [67004005, 67004062], [67008758, 67008836], [67009346, 67009411]]
ENST00000557916	[[66995596, 66996413], [67004005, 67004062], [67008758, 67008836], [67009346, 67009478], [67073334, 67073651]]	[[66995596, 66996413], [67004005, 67004062], [67008758, 67008836], [67009346, 67009411]]
ENST00000338426	[[67000929, 67001076], [67004005, 67004062], [67008758, 67008836], [67073334, 67074335]]	[[67001042, 67001076], [67004005, 67004062], [67008758, 67008836], [67073334, 67073873]]
ENST00000559931	[[67004013, 67004062], [67008758, 67008836], [67009349, 67009478], [67073334, 67073651]]	[[67004013, 67004062], [67008758, 67008836], [67009349, 67009411]]
ENST00000558937	[[67004034, 67004062], [67008758, 67008836], [67009349, 67009875]]	[[67004034, 67004062], [67008758, 67008836], [67009349, 67009411]]
NM_005585	[[66994673, 66996413], [67004005, 67004062], [67008758, 67008836], [67073334, 67074338]]	[[66995596, 66996413], [67004005, 67004062], [67008758, 67008836], [67073334, 67073873]]
NR_027654	[[66994673, 66996413], [67004005, 67004062], [67008758, 67008836], [67009346, 67009478], [67073334, 67074338]]	None

Promoter

Chrom	Start	End	Description
chr15	66994523	66994541	CAGE_peak_5_at_SMAD6_5end
chr15	66994561	66994597	CAGE_peak_2_at_SMAD6_5end
chr15	66994615	66994630	CAGE_peak_3_at_SMAD6_5end
chr15	66994663	66994680	CAGE_peak_1_at_SMAD6_5end
chr15	66994718	66994729	CAGE_peak_4_at_SMAD6_5end
chr15	66994885	66994904	CAGE_peak_7_at_SMAD6_5end
chr15	66994941	66994954	CAGE_peak_14_at_SMAD6_5end
chr15	66995062	66995065	CAGE_peak_8_at_SMAD6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I066734	66734862	66735955	1	[{'connected_gene': 'RPL4', 'score': 10.08}, {'connected_gene': 'ZWILCH', 'score': 10.08}, {'connected_gene': 'SNORD16', 'score': 10.08}, {'connected_gene': 'SNORD18A', 'score': 10.08}, {'connected_gene': 'ENSG00000274995', 'score': 0.44}, {'connected_gene': 'PIR60751', 'score': 0.31}, {'connected_gene': 'SMAD6', 'score': 0.29}]
chr15	GH15I066735	66735983	66736132	0.74	[{'connected_gene': 'RPL4', 'score': 10.08}, {'connected_gene': 'ZWILCH', 'score': 10.08}, {'connected_gene': 'SNORD16', 'score': 10.08}, {'connected_gene': 'SNORD18A', 'score': 10.08}, {'connected_gene': 'ENSG00000274995', 'score': 0.77}, {'connected_gene': 'PIR60751', 'score': 0.31}, {'connected_gene': 'SMAD6', 'score': 0.29}]
chr15	GH15I066768	66768846	66775092	1.42	[{'connected_gene': 'RPL4', 'score': 9.88}, {'connected_gene': 'ZWILCH', 'score': 9.88}, {'connected_gene': 'SNORD16', 'score': 9.88}, {'connected_gene': 'SNORD18A', 'score': 9.88}, {'connected_gene': 'GC15M066763', 'score': 0.77}, {'connected_gene': 'ENSG00000274995', 'score': 0.29}, {'connected_gene': 'SMAD6', 'score': 0.2}]
chr15	GH15I066733	66733800	66734600	0.94	[{'connected_gene': 'RPL4', 'score': 10.08}, {'connected_gene': 'ZWILCH', 'score': 10.08}, {'connected_gene': 'SNORD16', 'score': 10.08}, {'connected_gene': 'SNORD18A', 'score': 10.08}, {'connected_gene': 'ENSG00000274995', 'score': 0.44}, {'connected_gene': 'PIR60751', 'score': 0.31}, {'connected_gene': 'SMAD6', 'score': 0.29}]
chr15	GH15I066616	66616602	66623532	1.64	[{'connected_gene': 'MAP2K1', 'score': 6.73}, {'connected_gene': 'SMAD3', 'score': 2.85}, {'connected_gene': 'SMAD6', 'score': 2.62}, {'connected_gene': 'LINC01169', 'score': 0.28}, {'connected_gene': 'GC15P069498', 'score': 0.19}]
chr15	GH15I066603	66603683	66603872	0.68	[{'connected_gene': 'ZWILCH', 'score': 16.5}, {'connected_gene': 'SMAD6', 'score': 12.53}, {'connected_gene': 'RPL4', 'score': 10.77}, {'connected_gene': 'SNORD16', 'score': 10.74}, {'connected_gene': 'SNORD18A', 'score': 10.74}, {'connected_gene': 'LINC01169', 'score': 0.34}, {'connected_gene': 'GC15P069498', 'score': 0.17}]
chr15	GH15I066700	66700067	66708459	2.56	[{'connected_gene': 'SMAD6', 'score': 552.5}, {'connected_gene': 'ENSG00000260773', 'score': 40.69}, {'connected_gene': 'LOC646358', 'score': 12.27}, {'connected_gene': 'MAP2K5', 'score': 11.96}, {'connected_gene': 'IQCH-AS1', 'score': 11.44}, {'connected_gene': 'ZWILCH', 'score': 11.0}, {'connected_gene': 'SNORD16', 'score': 9.81}, {'connected_gene': 'MAP2K1', 'score': 2.22}, {'connected_gene': 'PIR60751', 'score': 0.77}]
chr15	GH15I066675	66675509	66675640	0.39	[{'connected_gene': 'SMAD6', 'score': 12.1}, {'connected_gene': 'GC15P069498', 'score': 0.37}, {'connected_gene': 'LINC01169', 'score': 0.16}]
chr15	GH15I066678	66678308	66681327	1.63	[{'connected_gene': 'SMAD6', 'score': 12.66}, {'connected_gene': 'GC15P069498', 'score': 0.39}, {'connected_gene': 'LINC01169', 'score': 0.15}]
chr15	GH15I066723	66723772	66724827	0.92	[{'connected_gene': 'SMAD6', 'score': 12.67}, {'connected_gene': 'PIR60751', 'score': 0.37}, {'connected_gene': 'ENSG00000274995', 'score': 0.37}]
chr15	GH15I066752	66752969	66754140	0.2	[{'connected_gene': 'SMAD6', 'score': 12.04}, {'connected_gene': 'ENSG00000274995', 'score': 0.39}, {'connected_gene': 'GC15M066763', 'score': 0.34}]
chr15	GH15I066755	66755706	66758374	0.74	[{'connected_gene': 'SMAD6', 'score': 12.36}, {'connected_gene': 'GC15M066763', 'score': 0.37}, {'connected_gene': 'ENSG00000274995', 'score': 0.37}]
chr15	GH15I066726	66725855	66725950	0.4	[{'connected_gene': 'SMAD6', 'score': 12.67}, {'connected_gene': 'ENSG00000274995', 'score': 0.39}, {'connected_gene': 'PIR60751', 'score': 0.37}]
chr15	GH15I066725	66725043	66725192	0.4	[{'connected_gene': 'SMAD6', 'score': 12.67}, {'connected_gene': 'PIR60751', 'score': 0.37}, {'connected_gene': 'ENSG00000274995', 'score': 0.37}]
chr15	GH15I066743	66743943	66752872	1.25	[{'connected_gene': 'SMAD6', 'score': 12.05}, {'connected_gene': 'ENSG00000274995', 'score': 0.44}, {'connected_gene': 'GC15M066763', 'score': 0.31}]
chr15	GH15I066698	66698017	66699404	1.28	[{'connected_gene': 'SMAD6', 'score': 0.77}, {'connected_gene': 'GC15P069498', 'score': 0.44}]
chr15	GH15I066740	66740475	66741605	0.74	[{'connected_gene': 'ENSG00000274995', 'score': 550.77}, {'connected_gene': 'ENSG00000260773', 'score': 13.16}, {'connected_gene': 'LOC646358', 'score': 10.41}, {'connected_gene': 'TIPIN', 'score': 9.97}, {'connected_gene': 'IQCH', 'score': 9.96}, {'connected_gene': 'GC15M066763', 'score': 0.29}, {'connected_gene': 'SMAD6', 'score': 0.28}]
chr15	GH15I066728	66728730	66731492	1.04	[{'connected_gene': 'ENSG00000260773', 'score': 21.77}, {'connected_gene': 'SMAD6', 'score': 12.3}, {'connected_gene': 'LOC646358', 'score': 11.49}, {'connected_gene': 'RPL4', 'score': 10.08}, {'connected_gene': 'SNORD16', 'score': 10.08}, {'connected_gene': 'SNORD18A', 'score': 10.08}, {'connected_gene': 'ZWILCH', 'score': 10.08}, {'connected_gene': 'DENND4A', 'score': 9.92}, {'connected_gene': 'ENSG00000274995', 'score': 0.39}, {'connected_gene': 'PIR60751', 'score': 0.34}]
chr15	GH15I066758	66758809	66767650	1.4	[{'connected_gene': 'ENSG00000260773', 'score': 26.41}, {'connected_gene': 'SMAD6', 'score': 12.33}, {'connected_gene': 'IQCH-AS1', 'score': 10.65}, {'connected_gene': 'GC15M066763', 'score': 0.39}, {'connected_gene': 'ENSG00000274995', 'score': 0.34}]
chr15	GH15I066718	66718143	66718292	0.63	[{'connected_gene': 'PIR60751', 'score': 0.39}, {'connected_gene': 'SMAD6', 'score': 0.37}, {'connected_gene': 'ENSG00000274995', 'score': 0.34}]
chr15	GH15I066691	66691627	66693837	0.93	[{'connected_gene': 'GC15P069498', 'score': 0.77}, {'connected_gene': 'SMAD6', 'score': 0.44}]
chr15	GH15I066736	66736663	66739168	0.38	[{'connected_gene': 'ENSG00000274995', 'score': 0.77}, {'connected_gene': 'PIR60751', 'score': 0.29}, {'connected_gene': 'SMAD6', 'score': 0.28}]
chr15	GH15I066741	66741812	66743605	0.54	[{'connected_gene': 'ENSG00000274995', 'score': 0.77}, {'connected_gene': 'GC15M066763', 'score': 0.29}, {'connected_gene': 'SMAD6', 'score': 0.26}]
chr15	GH15I066715	66715783	66715932	0.58	[{'connected_gene': 'PIR60751', 'score': 0.44}, {'connected_gene': 'SMAD6', 'score': 0.39}, {'connected_gene': 'ENSG00000274995', 'score': 0.34}]
chr15	GH15I066713	66713609	66715602	1.19	[{'connected_gene': 'PIR60751', 'score': 0.44}, {'connected_gene': 'SMAD6', 'score': 0.39}, {'connected_gene': 'ENSG00000274995', 'score': 0.31}]
chr15	GH15I066719	66719381	66721916	1.19	[{'connected_gene': 'PIR60751', 'score': 0.39}, {'connected_gene': 'SMAD6', 'score': 0.37}, {'connected_gene': 'ENSG00000274995', 'score': 0.37}]
chr15	GH15I066717	66717499	66717840	0.4	[{'connected_gene': 'PIR60751', 'score': 0.39}, {'connected_gene': 'SMAD6', 'score': 0.37}, {'connected_gene': 'ENSG00000274995', 'score': 0.34}]
chr15	GH15I066709	66709114	66712842	0.62	[{'connected_gene': 'PIR60751', 'score': 0.77}, {'connected_gene': 'SMAD6', 'score': 0.44}, {'connected_gene': 'ENSG00000274995', 'score': 0.31}]
chr15	GH15I066716	66716823	66716972	0.4	[{'connected_gene': 'PIR60751', 'score': 0.44}, {'connected_gene': 'SMAD6', 'score': 0.39}, {'connected_gene': 'ENSG00000274995', 'score': 0.34}]
chr15	GH15I066777	66777716	66781271	1.15	[{'connected_gene': 'GC15M066763', 'score': 0.77}, {'connected_gene': 'LETM1P1', 'score': 0.31}, {'connected_gene': 'SMAD6', 'score': 0.18}]
chr15	GH15I066775	66775448	66776328	0.85	[{'connected_gene': 'GC15M066763', 'score': 550.77}, {'connected_gene': 'LETM1P1', 'score': 0.29}, {'connected_gene': 'SMAD6', 'score': 0.19}]